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CDKL5 cyclin-dependent kinase-like 5 [ Homo sapiens (human) ]

Gene ID: 6792, updated on 12-Apr-2014
Official Symbol
CDKL5provided by HGNC
Official Full Name
cyclin-dependent kinase-like 5provided by HGNC
Primary source
HGNC:11411
Locus tag
RP1-245G19.3
See related
Ensembl:ENSG00000008086; HPRD:02190; MIM:300203; Vega:OTTHUMG00000021214
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ISSX; STK9; EIEE2
Summary
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Location :
Xp22
Sequence :
Chromosome: X; NC_000023.11 (18425605..18653629)
See CDKL5 in Epigenomics, MapViewer

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BEN domain containing 2 Neighboring gene sex comb on midleg-like 2 (Drosophila) Neighboring gene thymosin beta 10 pseudogene 2 Neighboring gene gap junction protein, alpha 6, pseudogene Neighboring gene transfer RNA valine 19 (anticodon UAC) Neighboring gene retinoschisin 1 Neighboring gene protein phosphatase, EF-hand calcium binding domain 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Angelman syndrome
MedGen: C0162635 OMIM: 105830 GeneReviews: Angelman Syndrome
Compare labs
Angelman syndrome-like
MedGen: CN128785 GeneReviews: Not available
Compare labs
Early infantile epileptic encephalopathy 2
MedGen: C1839333 OMIM: 300672 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ISCA Genome Curation PagePubMed
  • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
    BDNF signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
Rac GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Rac GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
dendrite cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
colocalizes_with ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
cyclin-dependent kinase-like 5
Names
cyclin-dependent kinase-like 5
serine/threonine kinase 9
serine/threonine-protein kinase 9
cyclin dependent kinase 5 transcript
NP_001032420.1
NP_003150.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008475.1 RefSeqGene

    Range
    5001..233025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037343.1NP_001032420.1  cyclin-dependent kinase-like 5

    See proteins identical to NP_001032420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (II) differs in the 5' UTR compared to variant 1. Variants I and II encode the same protein.
    Source sequence(s)
    AI286150, AL704691, AY217744, BC036091
    Consensus CDS
    CCDS14186.1
    UniProtKB/Swiss-Prot
    O76039
    Related
    ENSP00000369325, OTTHUMP00000023002, ENST00000379989, OTTHUMT00000055945
    Conserved Domains (2) summary
    cd07848
    Location:11297
    Blast Score: 1598
    STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    smart00220
    Location:13297
    Blast Score: 732
    S_TKc; Serine/Threonine protein kinases, catalytic domain
  2. NM_003159.2NP_003150.1  cyclin-dependent kinase-like 5

    See proteins identical to NP_003150.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (I) represents the longer transcript. Variants I and II encode the same protein.
    Source sequence(s)
    AI286150, AY217744, BC010966
    Consensus CDS
    CCDS14186.1
    UniProtKB/Swiss-Prot
    O76039
    Related
    ENSP00000369332, OTTHUMP00000023003, ENST00000379996, OTTHUMT00000055946
    Conserved Domains (2) summary
    cd07848
    Location:11297
    Blast Score: 1598
    STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    smart00220
    Location:13297
    Blast Score: 732
    S_TKc; Serine/Threonine protein kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11

    Range
    18425605..18653629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274584.1XP_005274641.1  

    Conserved Domains (2) summary
    cd07848
    Location:11297
    Blast Score: 1589
    STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    smart00220
    Location:13297
    Blast Score: 732
    S_TKc; Serine/Threonine protein kinases, catalytic domain
  2. XM_005274585.1XP_005274642.1  

    Conserved Domains (2) summary
    cd07848
    Location:11297
    Blast Score: 1589
    STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    smart00220
    Location:13297
    Blast Score: 732
    S_TKc; Serine/Threonine protein kinases, catalytic domain
  3. XM_006724511.1XP_006724574.1  

    See proteins identical to XP_006724574.1

    Conserved Domains (2) summary
    cd07848
    Location:11297
    Blast Score: 1598
    STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    smart00220
    Location:13297
    Blast Score: 732
    S_TKc; Serine/Threonine protein kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    16199185..16425423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    18474049..18702829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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